Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:42094528-42094987	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
MTND1P24	TF binding region
MTND2P17	TF binding region

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11831199	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11837703	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17129517	1.00[AMR][1000 genomes]
rs1874363	1.00[AMR][1000 genomes]
rs58151842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58224407	1.00[AMR][1000 genomes]
rs58812953	1.00[AMR][1000 genomes]
rs60032867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61008321	1.00[AMR][1000 genomes]
rs61288248	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7137316	0.97[AFR][1000 genomes]
rs7309622	1.00[AMR][1000 genomes]
rs73268508	1.00[EUR][1000 genomes]
rs73268510	1.00[EUR][1000 genomes]
rs73272886	1.00[AMR][1000 genomes]
rs73272891	1.00[AMR][1000 genomes]
rs73272898	1.00[AMR][1000 genomes]
rs73280133	1.00[AMR][1000 genomes]
rs73284155	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73284160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284164	1.00[EUR][1000 genomes]
rs73284198	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286141	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286165	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7977542	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv832386	chr12:42017259-42189476	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv558701	chr12:42038171-42105409	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv899043	chr12:42058138-42313665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42094400-42095200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:42094400-42095200	Enhancers	Psoas Muscle	Psoas
3	chr12:42094600-42095000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:42094600-42095000	Enhancers	Pancreatic Islets	Pancreatic Islet

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